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juvenile amyotrophic lateral sclerosis type 27
Summary
- Definition
- An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
- Super Class
- amyotrophic lateral sclerosis autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081381
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003391 | Gowers sign |
| HP:0002061 | Lower limb spasticity |
| HP:0012473 | Tongue atrophy |
| HP:0001288 | Gait disturbance |
| HP:0007340 | Lower limb muscle weakness |
| HP:0003307 | Hyperlordosis |
| HP:0000726 | Dementia |
| HP:0003691 | Scapular winging |
| HP:0002505 | Loss of ambulation |
| HP:0009050 | Quadriceps muscle atrophy |
